FOXG1 Proband Entry
Entry ID: fp31
Systematic name: c.256delC
Protein name: p.Gln86Argfs*106
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Rett syndrome - sporadic
Other mutation: NK
Chromosomal abnormality: No
Method of testing: direct, MECP2, CDKL5 negative
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
Source: Allou, L., Lambert, L., Amsallem, D., Bieth, E., Edery, P., Destree, A., Rivier, F., Amor, D., Thompson, E., Nicholl, J., Harbord, M., Nemos, C., Saunier, A., Moustaine, A., Vigouroux, A., Jonveaux, P., Philippe, C. (2012) 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet 20:1216-1223. Pubmed ID: 22739344
Publication ID: patient 2
Comments:
Entry last updated on: 2018-06-26 10:38:56
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There are no other entries in the database with a similar genotype.